Disease overview

Sexual development is determined by a variety of factors in varying capacity. Disorders of sexual development with an XY genotype lead to rudimentary male internal and external genitalia. This disease leads to infertility.

Gene name

NR5A1

Inheritance

Unknown

Signs and symptoms

Affected dogs may have changes in external genitalia, such as a rudimentary penis, failure of testicle descent, and/or an abnormally placed urethral opening. This disease leads to infertility.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Ultrasound or other imaging modalities will help diagnose the condition. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Nowacka-Woszuk J, Szczerbal I, Stachowiak M, Dzimira S, Nizanski W, Biezynski J, Nowak T, Gogulski M, Switonski M. Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Anim Reprod Sci. 2020 Dec;223:106632. doi: 10.1016/j.anireprosci.2020.106632. Epub 2020 Oct 18. PMID: 33128907.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.